Canonical Allele Identifier: PA091072
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8252
ClinVar RCV Id: RCV000008740 RCV000008739 RCV000507762 RCV001003756 RCV001564363 RCV002390099
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.Arg484Trp
CA119404
NM_000020.3:c.1450C>T